Understanding the genetic sequence of individual patients is becoming an important feature of medical care. This is particularly true in cancer, where the accumulation of genetic alterations in the tumor represents a universal feature of the disease. Until now, the ability to use genetic alterations for cancer research and treatment has been limited by the complexity of such alterations and the technical challenges of identifying these alterations in individual patients. The development of new analytic technologies and growing availability of targeted therapies are creating the opportunity to exploit these genetic alterations to improve cancer diagnosis and treatment.
The founders of Personal Genome Diagnostics (PGDx) at Johns Hopkins University are international leaders in cancer genetics who were the first to perform genome-wide sequence analyses of human cancer. Over the past 25 years, they have described the principles underlying the genetic basis of human cancer and have identified many of the alterations responsible for its development.
PGDx was launched in 2010 to bring state-of-the-art genetic analyses to cancer researchers, physicians and patients. PGDx has developed proprietary techniques that identify mutations found in patients’ tumors in order to characterize unique aspects of the disease. The unique aspects of this approach include proprietary methods for extracting genetic material from frozen or fixed tumor samples, high-throughput next generation sequencing, patented approaches for novel genetic analyses, and proprietary data analysis algorithms. PGDx has also developed technology that uses patient-specific tumor alterations to create a simple blood test that is being developed for tumor detection and monitoring. The company’s proprietary approaches for patient-specific analyses of cancer using digital technologies are expected to help provide new avenues for personalized approaches to cancer treatment.